The dicarboxylic acidurias

摘要: Urine from healthy infants and adults may contain low amounts of aliphatic dicarboxylic acids chain length C6–C8 (Bjorkman et al., 1976; Lawson 1976) very similar containing methyl branches (Pettersen Stokke, 1973; 1976), cyclopropane rings (Lindstedt 1974) acetylenic bonds Steen, 1975). Increased excretion C4–C10 has been reported secondary to a number pathological conditions, including keto acidosis (Chapter 12), where increased concentrations (up 0.5 mol per creatinine) adipic (C6:0) suberic (C8:0) occur 1972), glycogen storage diseases types I III, but still (0.02 odd- even-numbered saturated C6 C10 (Dosman 1974). Greatly have now observed in the urine patients with various generally absence ketosis, these collectively termed here ‘the acidurias’. A case neonatal lactic associated hypoglycaemia pronounced aciduria, particularly C10–C14 by Borg al. (1972), whom they postulated defect β-oxidation was greatly different acidurias described sections below.